Figure 1.

Carriers of recessive Mendelian disease variants display quantitative phenotypes

Mendelian diseases and their associated genes are listed to the left in each column, and effect size is plotted on the right for each associated quantitative trait in units of standard deviation (error bars, 95% CIs). Positive-effect variants are shown in red, negative-effect variants in blue, and variants not Bonferroni significant for one of the displayed traits in gray. Marker shapes correspond to effects on the gene and gene product as reported in ClinVar.